Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
Bort
S
S
Genetics Unit, Hospital Universitari La Fe, Valencia, Spain.
Sevilla
T
T
García-Planells
J
J
Blesa
D
D
Paricio
N
N
Vílchez
J J
JJ
Prieto
F
F
Palau
F
F
D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA